ClinVar Miner

List of variants in gene ACSF3 studied for not specified

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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122 0.91794
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200 0.72412
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528 0.72028
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527 0.72026
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255 0.71937
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529 0.71928
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526 0.71888
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=) rs12447947 0.24857
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019 0.03850
NM_001243279.3(ACSF3):c.667-12C>T rs72817437 0.03381
NM_001243279.3(ACSF3):c.1367-13C>G rs140859425 0.02493
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) rs59213357 0.01079
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336 0.00901
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) rs141088268 0.00369
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) rs138395741 0.00346
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=) rs183159791 0.00242
NM_001243279.3(ACSF3):c.-193-14A>G rs181386231 0.00139
NM_001243279.3(ACSF3):c.411C>T (p.Val137=) rs148969539 0.00083
NM_001243279.3(ACSF3):c.1614-10G>C rs370941606 0.00056
NM_001243279.3(ACSF3):c.1614-6C>T rs368789945 0.00046
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=) rs146779456 0.00034
NM_001243279.3(ACSF3):c.327C>T (p.Val109=) rs141517318 0.00031
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=) rs147718091 0.00029
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_001243279.3(ACSF3):c.-22G>C rs575978814 0.00013
NM_001243279.3(ACSF3):c.1502-18C>G rs759372180 0.00012
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=) rs560101290 0.00006
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu) rs780364085 0.00005
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys) rs570233664 0.00005
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) rs768886326 0.00004
NM_001243279.3(ACSF3):c.1501+11G>A rs770771724 0.00003
NM_001243279.3(ACSF3):c.1502-5C>T rs577763495 0.00003
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=) rs150322170 0.00002
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp) rs563580010 0.00002
NM_001243279.3(ACSF3):c.1239+9C>G rs376238513 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001243279.3(ACSF3):c.584A>G (p.Lys195Arg) rs796051921 0.00001
NM_001243279.3(ACSF3):c.666+20G>A rs557738566 0.00001
NC_000016.9:g.(89180896_89187208)_(89212458_89220497)dup
NC_000016.9:g.(?_89160216)_(89187322_89199543)dup
NM_001243279.3(ACSF3):c.-14_-13insCCAGGAGGCTCCCGGGAGC rs11273288
NM_001243279.3(ACSF3):c.-15C>G rs115469156
NM_001243279.3(ACSF3):c.-20-11C>A rs770106565
NM_001243279.3(ACSF3):c.-29G>C rs148444044
NM_001243279.3(ACSF3):c.-30C>A rs548417953
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln) rs140328142
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile) rs1378197369
NM_001243279.3(ACSF3):c.395C>A (p.Ala132Asp) rs2151407600
NM_001243279.3(ACSF3):c.60G>T (p.Arg20=) rs1555560476

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